Mutagenetix > Incidental Mutation

Incidental Mutation 'R5061:Or52l1'

386617

Institutional Source

Beutler Lab

Gene Symbol

Or52l1

Ensembl Gene

ENSMUSG00000047794

Gene Name

olfactory receptor family 52 subfamily L member 1

Synonyms

MOR37-1, GA_x6K02T2PBJ9-7810071-7809121, Olfr685

MMRRC Submission

042651-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.189) question?

Stock #

R5061 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104829568-104830518 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 104829864 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 219 (I219F)

Ref Sequence

ENSEMBL: ENSMUSP00000061561 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051355] [ENSMUST00000209409] [ENSMUST00000214712] [ENSMUST00000217432]

AlphaFold

A0A1L1SVG7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000051355
AA Change: I219F

PolyPhen 2 Score 0.558 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000061561
Gene: ENSMUSG00000047794
AA Change: I219F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	34	313	3e-107	PFAM
Pfam:7TM_GPCR_Srsx	38	217	2.9e-8	PFAM
Pfam:7tm_1	44	295	7e-21	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000209409
AA Change: I234F

PolyPhen 2 Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214712
AA Change: I234F

PolyPhen 2 Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217432
AA Change: I234F

PolyPhen 2 Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.7%

Validation Efficiency

100% (71/71)

MGI Phenotype

FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700009N14Rik	A	G	4: 39,450,953 (GRCm39)	H53R	probably benign	Het
Abcg1	A	G	17: 31,311,366 (GRCm39)	K124E	probably damaging	Het
Acot4	G	T	12: 84,085,475 (GRCm39)	R64L	probably benign	Het
Adam22	G	C	5: 8,230,238 (GRCm39)		probably benign	Het
Add2	G	A	6: 86,064,029 (GRCm39)		probably null	Het
Adgrb3	G	A	1: 25,107,209 (GRCm39)		probably benign	Het
Akap8l	T	G	17: 32,551,868 (GRCm39)	K441T	probably damaging	Het
Aspn	T	A	13: 49,720,080 (GRCm39)	S365R	probably damaging	Het
Atxn1	T	G	13: 45,710,569 (GRCm39)	K788Q	probably damaging	Het
Atxn2l	G	T	7: 126,099,375 (GRCm39)	H135N	probably damaging	Het
Borcs8	T	G	8: 70,593,008 (GRCm39)		probably null	Het
Col5a1	G	A	2: 27,842,390 (GRCm39)	D422N	unknown	Het
Cstad	A	T	2: 30,498,275 (GRCm39)	T37S	unknown	Het
Dgkq	A	T	5: 108,801,989 (GRCm39)	D455E	probably benign	Het
Dop1a	T	C	9: 86,385,161 (GRCm39)		probably benign	Het
Ebf3	T	C	7: 136,915,288 (GRCm39)	I84V	possibly damaging	Het
Ehmt2	C	T	17: 35,118,067 (GRCm39)	R40*	probably null	Het
Eif3e	A	T	15: 43,115,657 (GRCm39)	W370R	probably damaging	Het
Eya3	T	A	4: 132,431,689 (GRCm39)	D323E	probably damaging	Het
F5	T	C	1: 164,021,749 (GRCm39)	L1408P	probably benign	Het
Fam110d	T	C	4: 133,979,041 (GRCm39)	T146A	probably benign	Het
Gfod1	C	T	13: 43,353,992 (GRCm39)	G328S	probably benign	Het
Gja1	T	A	10: 56,263,752 (GRCm39)	L37Q	probably damaging	Het
Gm10650	T	A	3: 127,833,666 (GRCm39)		noncoding transcript	Het
Gm14226	T	A	2: 154,867,106 (GRCm39)	H354Q	probably benign	Het
Gm15056	T	C	8: 21,390,758 (GRCm39)	T60A	probably benign	Het
Hsd11b1	A	T	1: 192,924,553 (GRCm39)	N6K	probably benign	Het
Ighv1-36	T	C	12: 114,843,742 (GRCm39)	I39M	probably benign	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Kdm7a	G	A	6: 39,128,386 (GRCm39)	P482S	possibly damaging	Het
Lama5	C	A	2: 179,840,579 (GRCm39)	E607*	probably null	Het
Lao1	T	A	4: 118,824,673 (GRCm39)	S252T	probably benign	Het
Lrp12	A	G	15: 39,741,650 (GRCm39)	F355S	probably damaging	Het
Mlycd	T	C	8: 120,137,043 (GRCm39)	F421S	probably damaging	Het
Nectin3	T	C	16: 46,268,812 (GRCm39)	E530G	probably benign	Het
Nifk	T	C	1: 118,260,669 (GRCm39)	*270R	probably null	Het
Ocln	T	C	13: 100,676,106 (GRCm39)	Y129C	probably damaging	Het
Or10ag60	C	T	2: 87,438,176 (GRCm39)	T148I	probably benign	Het
Or4f54	T	A	2: 111,122,832 (GRCm39)	L73H	probably damaging	Het
Or5b117	A	T	19: 13,431,349 (GRCm39)	C177*	probably null	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pcdhb22	G	T	18: 37,652,179 (GRCm39)	G216C	probably damaging	Het
Ppcs	T	C	4: 119,276,412 (GRCm39)	K58E	probably damaging	Het
Prss38	T	C	11: 59,265,196 (GRCm39)	T123A	probably damaging	Het
Rap1gap	T	A	4: 137,447,744 (GRCm39)		probably null	Het
Rbm18	A	G	2: 36,017,217 (GRCm39)	F54L	possibly damaging	Het
Rwdd3	G	A	3: 120,953,432 (GRCm39)		probably benign	Het
Ryr2	T	C	13: 11,650,422 (GRCm39)	K138E	possibly damaging	Het
Sec24a	T	C	11: 51,604,359 (GRCm39)		probably null	Het
Serpinb10	A	G	1: 107,468,701 (GRCm39)	T115A	probably benign	Het
Slco1a8	T	A	6: 141,954,414 (GRCm39)	M20L	probably benign	Het
Slx4ip	T	G	2: 136,885,930 (GRCm39)	F83L	probably damaging	Het
St3gal1	A	T	15: 66,980,078 (GRCm39)	S274T	probably benign	Het
Stab1	A	C	14: 30,885,056 (GRCm39)	C121W	probably damaging	Het
Stab2	A	G	10: 86,743,249 (GRCm39)	L1149P	probably damaging	Het
Svil	T	G	18: 5,048,954 (GRCm39)	I77R	probably benign	Het
Tbk1	T	G	10: 121,412,241 (GRCm39)	E47A	possibly damaging	Het
Tert	C	T	13: 73,782,397 (GRCm39)	T557I	probably damaging	Het
Tfap2c	A	G	2: 172,393,947 (GRCm39)	D252G	probably damaging	Het
Tll1	C	A	8: 64,506,983 (GRCm39)	C586F	probably damaging	Het
Tln2	T	G	9: 67,261,750 (GRCm39)	N663T	probably benign	Het
Tmem245	T	A	4: 56,946,945 (GRCm39)	Y156F	possibly damaging	Het
Uhrf1	G	T	17: 56,627,542 (GRCm39)		probably null	Het
Unc79	T	A	12: 103,134,700 (GRCm39)	M2417K	possibly damaging	Het
Ush2a	T	C	1: 188,689,471 (GRCm39)	V5011A	probably benign	Het
Virma	T	C	4: 11,494,840 (GRCm39)	V47A	possibly damaging	Het
Vmn2r53	A	C	7: 12,315,741 (GRCm39)	S693A	probably benign	Het
Vps54	G	A	11: 21,269,881 (GRCm39)		probably benign	Het
Znfx1	T	C	2: 166,907,318 (GRCm39)		probably benign	Het

Other mutations in Or52l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01137:Or52l1	APN	7	104,829,695 (GRCm39)	missense	probably benign	0.00
IGL01612:Or52l1	APN	7	104,829,929 (GRCm39)	missense	probably damaging	1.00
IGL02598:Or52l1	APN	7	104,830,163 (GRCm39)	missense	probably damaging	1.00
R0841:Or52l1	UTSW	7	104,830,061 (GRCm39)	missense	probably damaging	0.96
R1164:Or52l1	UTSW	7	104,830,040 (GRCm39)	missense	probably benign	0.02
R1711:Or52l1	UTSW	7	104,829,967 (GRCm39)	missense	probably damaging	0.99
R1891:Or52l1	UTSW	7	104,829,754 (GRCm39)	nonsense	probably null
R1901:Or52l1	UTSW	7	104,830,079 (GRCm39)	missense	possibly damaging	0.88
R1990:Or52l1	UTSW	7	104,830,221 (GRCm39)	missense	probably damaging	1.00
R3766:Or52l1	UTSW	7	104,830,088 (GRCm39)	missense	probably damaging	0.98
R4750:Or52l1	UTSW	7	104,830,133 (GRCm39)	missense	probably damaging	1.00
R5056:Or52l1	UTSW	7	104,829,779 (GRCm39)	missense	probably damaging	1.00
R6227:Or52l1	UTSW	7	104,829,917 (GRCm39)	missense	probably damaging	1.00
R7619:Or52l1	UTSW	7	104,829,956 (GRCm39)	missense	probably damaging	1.00
R8075:Or52l1	UTSW	7	104,830,343 (GRCm39)	missense	probably damaging	0.98
R8250:Or52l1	UTSW	7	104,830,518 (GRCm39)	missense
R8951:Or52l1	UTSW	7	104,829,638 (GRCm39)	missense	probably damaging	0.99
R8961:Or52l1	UTSW	7	104,830,376 (GRCm39)	missense	possibly damaging	0.72
R9214:Or52l1	UTSW	7	104,829,587 (GRCm39)	missense	probably benign	0.00
R9469:Or52l1	UTSW	7	104,829,967 (GRCm39)	missense	probably damaging	0.99
R9782:Or52l1	UTSW	7	104,830,067 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCAGCAGAACATGGACATG -3'
(R):5'- ATTATAGGGCGCATTGGGC -3'

Sequencing Primer
(F):5'- TGATGGGGAACATGGTGGCC -3'
(R):5'- CGCATTGGGCTGGTAGTAC -3'

Posted On

2016-06-06